ClinVar Miner

Submissions for variant NM_025179.4(PLXNA2):c.3640-5C>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003659269 SCV004374363 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with PLXNA2-related conditions. This variant is present in population databases (rs367938573, gnomAD 0.0009%). This sequence change falls in intron 19 of the PLXNA2 gene. It does not directly change the encoded amino acid sequence of the PLXNA2 protein.
PreventionGenetics, part of Exact Sciences RCV004747329 SCV005358024 likely benign PLXNA2-related disorder 2022-06-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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